GATK Germline CNV Discovery

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Muhammad Shoaib Akhtar

• December 03, 2021 06:04

This is just an exploratory question for my understanding.

How GATK's germline CNV calling works in single sample mode vs cohort mode?

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  Pamela Bretscher

  • December 03, 2021 13:56

  Hi Muhammad Shoaib Akhtar,

  Have you seen this document about GermlineCNVCaller and the difference between CASE and COHORT modes? I am going to move your post to the General Discussion topic as the Germline topic is for reporting bugs and issues with GATK.

  Kind regards,

  Pamela

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